LongevityMap Gene

Gene details

HGNC symbol
SOX5 
Aliases
L-SOX5; LAMSHF; L-SOX5B; L-SOX5F 
Common name
SRY-box 5 
Description
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
OMIM
604975
Ensembl
ENSG00000134532
UniProt/Swiss-Prot
A0A024RB06_HUMAN
Entrez Gene
6660
UniGene
434948
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
sox5
Mus musculus
Sox5

In other databases

CellAge
  • This gene is present as SOX5

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Dutch
Study Design
Genome-wide association study in 403 unrelated nonagenarians from long-living families and 1670 younger controls. Strongest candidates were then investigated in a meta-analysis of 4149 nonagenarian cases and 7582 younger controls.
Conclusions
No SNP reached significance in the GWAS but 62 SNPs, many in genes, had an indicative association with survival into old age. Of these 62 SNPs then studied in the meta-analysis, 61 were not significant.
Indentifier
rs11047358
Reference